Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

7.3K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
7.3K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

580
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
580

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Efficient numerical treatment of time fractional advection diffusion equations for modeling heat, pollutant and particle transport using subdivision collocation.

Scientific reports·2026
Same author

Exploring postnatal and newborn home care experiences of rural and remote mothers in Pakistan whose neonates were admitted to the hospital: A qualitative study.

PloS one·2026
Same author

Sex-specific associations of anthropometric markers with prediabetes in the general population.

Nutrition, metabolism, and cardiovascular diseases : NMCD·2026
Same author

Risk factors for early discontinuation of breastfeeding before two years age.

JPMA. The Journal of the Pakistan Medical Association·2025
Same author

Enhanced structural and electrical properties of furnace-cooled SrZrO<sub>3</sub>-modified BFBT lead-free piezoceramics for high-temperature applications.

Scientific reports·2025
Same author

Macular OCT inner retinal changes reflect CNS involvement in m.3243A>G disease.

BMJ neurology open·2025

Related Experiment Video

Updated: Nov 29, 2025

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.2K

A Rare Case Of Berardinelli Seip Syndrome.

Saima Bibi1, Danish Balti1, Khyal Mohammad1

  • 1Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC
|November 23, 2020
PubMed
Summary

Berardinelli Seip Syndrome, a rare genetic disorder causing adipose tissue loss, impacts metabolism. This report details a case in an Afghan male child, highlighting the need for ongoing research and management strategies.

Keywords:
Leptin; HepatomegalyLipodystrophy

More Related Videos

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.6K
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

6.8K

Related Experiment Videos

Last Updated: Nov 29, 2025

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.2K
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.6K
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

6.8K

Area of Science:

  • Genetics
  • Endocrinology
  • Metabolic Disorders

Background:

  • Berardinelli Seip Syndrome is a rare genetic disorder characterized by a near-complete absence of adipose tissue.
  • This lipodystrophy leads to severe metabolic derangements, including insulin resistance and dyslipidemia.
  • Current management focuses on symptom control and complication prevention due to the lack of a cure.

Observation:

  • A case of Berardinelli Seip Syndrome is presented in a young male child from Afghanistan.
  • The patient exhibited classic clinical manifestations associated with the syndrome.
  • This case highlights the global prevalence and varied geographic distribution of rare genetic disorders.

Findings:

  • The syndrome results in significant disruptions in carbohydrate and lipid metabolism.
  • Management strategies involve a low-fat diet, metformin, and leptin replacement therapy.
  • Early diagnosis and intervention are crucial for managing associated complications.

Implications:

  • This case underscores the importance of recognizing Berardinelli Seip Syndrome in diverse populations.
  • Further research is needed to explore potential therapeutic advancements and genetic underpinnings.
  • Improved diagnostic and management protocols can enhance patient outcomes globally.